Co-Founder Jim Kelly and the Taylor Family at our 2014 Family & Medical Symposium

If you or a loved one is affected by a Leukodystrophy, you are not alone. Please visit our Affected Family
Registration page and tell us more about your family. After registering
with the Foundation, our Family Care Representative, Kathleen Scott, will
contact you to learn more about your family’s story and how we may be able to
help you on your journey.

Leukodystrophies

What is a Leukodystrophy?Leukodystrophies are a group of disorders that affect the white matter
in the brain. The word comes from Leuko,
which means white, and dystrophy,
which means imperfect growth. Therefore, Leukodystrophies are characterized by
imperfect growth of the white matter in the brain.

How many Leukodystrophies are there?Currently,
there are over 40 known Leukodystrophies, although many still remain unclassified. This list has grown significantly in the last
ten years and as research advances, scientists will continue to discover and
classify new variations in this family of diseases.

As a group, Leukodystrophies are
estimated to affect approximately 1 in 7,000 people, however as more
unclassified variants are identified this number may increase
to as high as 1 in 2,000.

Why do you get a Leukodystrophy?Most
Leukodystrophies are genetic, which means that they are passed from parents to
children. Depending on the Leukodystrophy, the manner in which a mutated gene
is passed down will differ.

Although rare,
recent research has also indicated that some Leukodystrophies develop sporadically,
meaning that neither parent is a carrier of a mutated gene.

How are Leukodystrophies diagnosed?Often times,
MRIs used to produce detailed images of the brain help in the initial diagnosis
of a Leukodystrophy. Depending on the
Leukodystrophy, additional diagnostic measures may include, blood tests, urine
tests, hearing tests, nerve biopsies, CT scans or lumbar punctures.

Newborn screening can also be used to help detect a limited number of
Leukodystrophies. Currently, newborn screening exists only for Krabbe Disease
and Adrenoleukodystrophy (ALD). However, this group is anticipated to grow as
research continues to advance. Unfortunately, not all states include Krabbe and
ALD in their newborn
screening panels.

Is there treatment for
Leukodystrophies?Depending on
the type and stage of the Leukodystrophy, some treatments may be available such
as cord blood or bone marrow transplantation. However, in many cases, treatment
must be administered before the disease is too far progressed.

Research
studies exploring the effectiveness of enzyme replacement and gene therapy are
also underway for some Leukodystrophies.

Often,
treatment is limited to symptom management. This includes, but is not limited
to, various medications, adaptive equipment, physical, speech and occupational
therapy, nutritionists, nursing, etc.
Although this does not stop the progression of the disease, this
proactive approach greatly improves the child’s comfort level as well as quality
of life. For more information, visit our
Hope
for Life webpage.

What are the symptoms of
Leukodystrophies?Most commonly,
Leukodystrophies are defined by a gradual decline in development. An infant or
child, who was previously exhibiting normal development, may experience
progressive loss in gait, body tone, vision, hearing, swallowing and ability to
eat.

What makes Leukodystrophies similar?
What makes them different?All Leukodystrophies are the result of an improper growth of
myelin. Myelin is the protective
covering of nerve cells and acts like insulation surrounding an electric wire.
Myelin is made up of thousands of chemicals, each of which affects the myelin
sheath in some way. The myelin sheath, which is the main component of the white
matter, is extremely complex. Leukodystrophies are caused by a deficiency in
one of these chemical substances, which results in problems within the myelin
sheath.

Many genes are involved in the process of making healthy myelin.
A mutation, or defect, in any of the genes associated with this process may
result in a Leukodystrophy. Symptoms vary, depending on the type and stage of
each specific disease.

What research is being done to help
those with Leukodystrophies?Through
Hunter’s Hope Foundation, scientists at the Hunter James Kelly Research
Institute are investigating various aspects of Leukodystrophies in hopes of
improving available therapies and ultimately finding a cure for these diseases.

Several research projects are currently underway
to help improve the lives of Leukodystrophy patients. For a list of research
projects that Hunter’s Hope has, or is currently funding, please visit the Research
Projects section of the Hunter’s Hope website.